Child with abnormal facies

Description

Mind Map on Child with abnormal facies, created by Salma Mk on 30/09/2016.
Salma Mk
Mind Map by Salma Mk, updated more than 1 year ago
Salma Mk
Created by Salma Mk almost 8 years ago
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Resource summary

Child with abnormal facies
  1. Neonatal Intensive Care Unit
    1. Incubator
      1. most important equipment
        1. used for
          1. oxygenation
            1. observation
              1. nutrition provision
                1. fluid balance maintainance
                  1. medication adminstration
                2. Resuscitation
                3. Chromosome
                  1. Structure
                    1. DNA + proteins ( histones)
                      1. centromere- constricted part of chromosome
                        1. joins 2 arms
                          1. P arm- short arm
                            1. Q arm- Long arm
                            2. metacentric
                              1. submetacentric
                                1. acrocentric
                                  1. telocentric
                              2. Number
                                1. somatic cells- 46
                                  1. germ cells- 23
                                  2. Chromosomal abnormalities
                                    1. structural abnormalities
                                      1. deletion
                                        1. inversion
                                          1. duplication
                                            1. translocation
                                            2. numerical abnormalities
                                              1. polyploidy
                                                1. trilpoidy
                                                  1. caused by polyspermy
                                                  2. tetraploidy
                                                    1. problem in cytokinesis
                                                  3. aneuploidy
                                                    1. caused by
                                                      1. nondysjunction
                                                        1. meiosis 1 or 2 in germ cells
                                                        2. translocation
                                                          1. reciprocal
                                                            1. robertsanian
                                                            2. failure in duplication
                                                            3. monosomy
                                                              1. one less chromosome in a chromosome set (2n-1)
                                                              2. trisomy
                                                                1. trisomy 21
                                                                  1. Down Syndrome
                                                                    1. risk factors
                                                                      1. maternal age >35
                                                                        1. one of the parents are translocation carriers
                                                                        2. Physical signs
                                                                          1. craniofacial anomalies
                                                                            1. upslanting eyes
                                                                              1. epicanthal folds
                                                                                1. flattened face
                                                                                  1. small ears
                                                                                  2. hypotonia
                                                                                  3. health complications
                                                                                    1. heart defects
                                                                                      1. rare type of leukaemia
                                                                                        1. metabolic irregularities
                                                                                        2. tests
                                                                                          1. antenatal tests to diagnose chromosomal abnormalities
                                                                                            1. screening tests
                                                                                              1. maternal serum screening
                                                                                                1. ultrasound
                                                                                                2. karyotyping
                                                                                                  1. amniocentesis
                                                                                                    1. chorionic villus sampling
                                                                                                      1. confirmed by
                                                                                                        1. FISH
                                                                                                          1. tests for finer details, gene level mutations, and submicroscopic deletions
                                                                                                  2. genetic counselling
                                                                                                    1. process that includes
                                                                                                      1. evaluating family history and medical history
                                                                                                        1. genetic tests done
                                                                                                          1. evaluate the tests
                                                                                                            1. decide what the options are, help parents understand, and make decision
                                                                                                          2. intellectual disability
                                                                                                            1. measured by
                                                                                                              1. IQ test
                                                                                                                1. stanford binet intelligence scale
                                                                                                                2. developmental milestones
                                                                                                                  1. delayed
                                                                                                                3. Humanitarian Aid
                                                                                                                  1. by humanitarian organisation
                                                                                                                    1. SCHS (Sharjah City for Humanitarian Services)
                                                                                                                      1. local non profit organisation that aims to advance the arab family and develop social services it needs
                                                                                                                        1. early intervention
                                                                                                                      2. for rehabilitation
                                                                                                              2. one extra chromosome in a chromosome set (2n+1)
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